Mutation details:

Protein level identifier (NP_001135811):

p.Gly340Ser

cDNA level identifier (NM_001142339):

c.1018G>A

Gene level identifier:

g.192052G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11881006

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).